MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
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Atrophy (D001284)
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Brain Diseases (D001927)
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Microcephaly (D008831)
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Seizures (D012640)
..Starting node
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MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..expandDysmyelination With Jaundice (C565610)
..expandGlycosylphosphatidylinositol deficiency (C537277)
..expandHyper-Beta-Alaninemia (C562684)
..expandHYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462)  LSDB  L: 00479;
..expandHyperleucine-Isoleucinemia (C562674)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..expandMuller Barth Menger syndrome (C537370)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..expandNEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..expandSeizures, Febrile (D003294) Child21
..expandSeSAME syndrome (C557674)
..expandStatus Epilepticus (D013226) Child1
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWHITE-SUTTON SYNDROME (OMIM:616364)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7936
Name:MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Definition:
Alternative IDs:
ParentIDs:MESH:D001284|MESH:D001927|MESH:D008831|MESH:D012640
TreeNumbers:C05.660.207.620/613668 |C10.228.140/613668 |C10.500.507.400.500/613668 |C10.597.742/613668 |C16.131.621.207.620/613668 |C16.131.666.507.400.500/613668 |C23.300.070/613668 |C23.888.592.742/613668
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: 613668
MeSH: 613668
OMIM: 613668;
MSeqDR LSDB:  
Genes: ALK; KIF1B; MED17; NME1; PHOX2B;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002169Clonus
3 HP:0002506Diffuse cerebral atrophy
4 HP:0002015Dysphagia
NAMDC:  Dysphagia
5 HP:0001508Failure to thrive
6 HP:0011968Feeding difficulties
7 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0002521Hypsarrhythmia
10 HP:0005484Postnatal microcephaly
11 HP:0003676Progressive
12 HP:0000253Progressive microcephaly
13 HP:0001250Seizures
NAMDC:  Seizures
14 HP:0001257Spasticity
NAMDC:  Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004268.5(MED17):c.-10C>T9440MED17Uncertain significance-1RCV001277344; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351767093517670CT11:g.93517670C>T-
NM_004268.5(MED17):c.-3A>G9440MED17Uncertain significance-1RCV001277345; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351767793517677AG11:g.93517677A>G-
NM_004268.5(MED17):c.8G>T (p.Gly3Val)9440MED17Uncertain significance-1RCV001277346; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351768793517687GT11:g.93517687G>T-
NM_004268.5(MED17):c.195C>G (p.Gly65=)9440MED17Benignrs7116967RCV000117608|RCV000600983; NMedGen:CN169374|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351787493517874CG11:g.93517874C>GClinGen:CA153678
NM_004268.5(MED17):c.201G>T (p.Ala67=)9440MED17Likely benignrs200765332RCV000919379|RCV001274815; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351788093517880GT11:g.93517880G>T-
NM_004268.5(MED17):c.203A>C (p.Gln68Pro)9440MED17Benignrs200317687RCV000906859|RCV001274816; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351788293517882AC11:g.93517882A>C-
NM_004268.5(MED17):c.207G>C (p.Glu69Asp)9440MED17Benignrs2848477RCV000117609|RCV000607022; NMedGen:CN169374|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351788693517886GC11:g.93517886G>CClinGen:CA153680,UniProtKB:Q9NVC6#VAR_063126
NM_004268.5(MED17):c.212C>T (p.Pro71Leu)9440MED17Uncertain significance-1RCV001278665; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351789193517891CT11:g.93517891C>T-
NM_004268.5(MED17):c.219C>T (p.Ala73=)9440MED17Likely benignrs570880864RCV000942141|RCV001274817; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351789893517898CT11:g.93517898C>T-
NM_004268.5(MED17):c.224C>G (p.Ser75Cys)9440MED17Benignrs184914659RCV000898028|RCV001274818; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351790393517903CG11:g.93517903C>G-
NM_004268.5(MED17):c.233A>G (p.Asp78Gly)9440MED17Uncertain significance-1RCV001278666; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351791293517912AG11:g.93517912A>G-
NM_004268.5(MED17):c.250+7C>T9440MED17Benignrs760894077RCV000932783|RCV001274819; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119351793693517936CT11:g.93517936C>T-
NM_004268.5(MED17):c.325A>C (p.Met109Leu)9440MED17Uncertain significance-1RCV001278667; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352124193521241AC11:g.93521241A>C-
NM_004268.5(MED17):c.354T>C (p.Ile118=)9440MED17Uncertain significance-1RCV001278668; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352127093521270TC11:g.93521270T>C-
NM_004268.5(MED17):c.429G>A (p.Thr143=)9440MED17Benignrs143585935RCV000941639|RCV001274820; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352375193523751GA11:g.93523751G>A-
NM_004268.5(MED17):c.447A>G (p.Lys149=)9440MED17Likely benignrs1406576155RCV000943990|RCV001274821; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352376993523769AG11:g.93523769A>G-
NM_004268.5(MED17):c.566G>A (p.Arg189Gln)9440MED17Uncertain significance-1RCV001278669; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352388893523888GA11:g.93523888G>A-
NM_004268.5(MED17):c.571C>T (p.Arg191Trp)9440MED17Likely pathogenicrs587780394RCV000117613; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352389393523893CT11:g.93523893C>TClinGen:CA153687
NM_004268.5(MED17):c.690C>T (p.Leu230=)9440MED17Conflicting interpretations of pathogenicityrs116727804RCV000193193|RCV000906805|RCV001274822; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352694693526946CT11:g.93526946C>TClinGen:CA206508
NM_004268.5(MED17):c.761C>G (p.Ser254Cys)9440MED17Uncertain significance-1RCV001278670; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352701793527017CG11:g.93527017C>G-
NM_004268.5(MED17):c.859+5G>A9440MED17Uncertain significance-1RCV001278671; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352720693527206GA11:g.93527206G>A-
NM_004268.5(MED17):c.859+18T>C9440MED17Benignrs657177RCV000613039; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352721993527219TC11:g.93527219T>CClinGen:CA6232432C3150921 613668 Microcephaly, postnatal progressive, with seizures and brain atrophy;
NM_004268.5(MED17):c.891G>A (p.Ala297=)9440MED17Uncertain significance-1RCV001278672; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352810593528105GA11:g.93528105G>A-
NM_004268.5(MED17):c.978G>C (p.Val326=)9440MED17Benignrs2276311RCV000117614|RCV000967232|RCV001275542; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352819293528192GC11:g.93528192G>CClinGen:CA153689
NM_004268.5(MED17):c.1011G>A (p.Pro337=)9440MED17Benignrs141529021RCV000951297|RCV001274823; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352822593528225GA11:g.93528225G>A-
NM_004268.5(MED17):c.1071T>A (p.Phe357Leu)9440MED17Conflicting interpretations of pathogenicityrs35313315RCV000117604|RCV001274824; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352963493529634TA11:g.93529634T>AClinGen:CA231292,UniProtKB:Q9NVC6#VAR_057781
NM_004268.5(MED17):c.1092G>A (p.Pro364=)9440MED17Benignrs34057693RCV000117605|RCV000603814; NMedGen:CN169374|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352965593529655GA11:g.93529655G>AClinGen:CA153672
NM_004268.5(MED17):c.1099C>G (p.His367Asp)9440MED17Uncertain significance-1RCV001278673; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352966293529662CG11:g.93529662C>G-
NM_004268.5(MED17):c.1112T>C (p.Leu371Pro)9440MED17Pathogenicrs267607232RCV000006410; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352967593529675TC11:g.93529675T>CClinGen:CA117920,UniProtKB:Q9NVC6#VAR_065066,OMIM:603810.0001C3150921 613668 Microcephaly, postnatal progressive, with seizures and brain atrophy;
NM_004268.5(MED17):c.1132C>T (p.Leu378=)9440MED17Likely benignrs376941892RCV000942490|RCV001274825; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119352969593529695CT11:g.93529695C>T-
NM_004268.5(MED17):c.1223C>G (p.Ser408Trp)9440MED17Uncertain significance-1RCV001278674; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353078093530780CG11:g.93530780C>G-
NM_004268.5(MED17):c.1260A>G (p.Ser420=)9440MED17Benignrs36120755RCV000117606|RCV000955429|RCV001275543; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353081793530817AG11:g.93530817A>GClinGen:CA153674
NM_004268.5(MED17):c.1282C>T (p.Leu428=)9440MED17Uncertain significance-1RCV001278675; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353083993530839CT11:g.93530839C>T-
NM_004268.5(MED17):c.1329-11G>A9440MED17Benignrs655699RCV000601085; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353499093534990GA11:g.93534990G>AClinGen:CA6232595C3150921 613668 Microcephaly, postnatal progressive, with seizures and brain atrophy;
NM_004268.5(MED17):c.1380A>G (p.Ile460Met)9440MED17Uncertain significance-1RCV001278676; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353505293535052AG11:g.93535052A>G-
NM_004268.5(MED17):c.1405G>T (p.Asp469Tyr)9440MED17Uncertain significance-1RCV001278677; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353507793535077GT11:g.93535077G>T-
NM_004268.5(MED17):c.1433T>G (p.Leu478Ter)9440MED17Likely pathogenic-1RCV001199278; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353510593535105TG11:g.93535105T>G-
NM_004268.5(MED17):c.1447G>A (p.Gly483Ser)9440MED17Uncertain significance-1RCV001278678; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353511993535119GA11:g.93535119G>A-
NM_004268.5(MED17):c.1449C>G (p.Gly483=)9440MED17Uncertain significancers61754525RCV000193323|RCV001278679; NMedGen:CN169374|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119353512193535121CG11:g.93535121C>GClinGen:CA206724
NM_004268.5(MED17):c.1482A>G (p.Gln494=)9440MED17Benignrs34380494RCV000117603|RCV000965853|RCV001275544; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119354069993540699AG11:g.93540699A>GClinGen:CA153670
NM_004268.5(MED17):c.1554G>A (p.Glu518=)9440MED17Likely benignrs756251649RCV000942785|RCV001274826; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119354077193540771GA11:g.93540771G>A-
NM_004268.5(MED17):c.1744+3del9440MED17Uncertain significance-1RCV001278680; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119354304593543045TAT11:g.93543045_93543045del-
NM_004268.5(MED17):c.1756C>T (p.Pro586Ser)9440MED17Uncertain significance-1RCV001278681; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119354503093545030CT11:g.93545030C>T-
NM_004268.5(MED17):c.1850A>G (p.His617Arg)9440MED17Uncertain significance-1RCV001278682; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119354512493545124AG11:g.93545124A>G-
NM_004268.5(MED17):c.1868A>G (p.Lys623Arg)9440MED17Likely benignrs570654786RCV000978761|RCV001274827; NMedGen:CN517202|MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119354514293545142AG11:g.93545142A>G-
NM_004268.5(MED17):c.1898G>A (p.Arg633Gln)9440MED17Uncertain significancers1356392449RCV000625859; NMONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668, Orphanet:402364119354517293545172GA11:g.93545172G>AClinGen:CA382363011C3150921 613668 Microcephaly, postnatal progressive, with seizures and brain atrophy;
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